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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489407.1:p.[Glu1048_Leu1051delinsSerAlaSerTrp;Thr1053_Gly1054delinsProAla;Thr1056_Leu1063delinsProProAlaAlaThrCysCysCys;Ser1065del;Val1067_Ala1069delinsArgCys;Lys1071_Gly1076del]
CA2573158312
ENST00000445220.5:c.3142del